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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-120198564-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120198564&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120198564,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001002.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "NM_001002.4",
"protein_id": "NP_000993.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 317,
"cds_start": 641,
"cds_end": null,
"cds_length": 954,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": "ENST00000392514.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000392514.9",
"protein_id": "ENSP00000376299.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 317,
"cds_start": 641,
"cds_end": null,
"cds_length": 954,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": "NM_001002.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000228306.8",
"protein_id": "ENSP00000339027.3",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 317,
"cds_start": 641,
"cds_end": null,
"cds_length": 954,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000551150.5",
"protein_id": "ENSP00000449328.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 317,
"cds_start": 641,
"cds_end": null,
"cds_length": 954,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.921G>A",
"hgvs_p": null,
"transcript": "ENST00000548568.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.465+290G>A",
"hgvs_p": null,
"transcript": "ENST00000313104.9",
"protein_id": "ENSP00000366471.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "NM_053275.4",
"protein_id": "NP_444505.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 317,
"cds_start": 641,
"cds_end": null,
"cds_length": 954,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "ENST00000546989.5",
"protein_id": "ENSP00000449205.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 281,
"cds_start": 533,
"cds_end": null,
"cds_length": 846,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "ENST00000550856.5",
"protein_id": "ENSP00000448046.1",
"transcript_support_level": 2,
"aa_start": 214,
"aa_end": null,
"aa_length": 246,
"cds_start": 641,
"cds_end": null,
"cds_length": 742,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Arg165His",
"transcript": "ENST00000546990.5",
"protein_id": "ENSP00000447311.1",
"transcript_support_level": 3,
"aa_start": 165,
"aa_end": null,
"aa_length": 245,
"cds_start": 494,
"cds_end": null,
"cds_length": 738,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194His",
"transcript": "ENST00000547211.5",
"protein_id": "ENSP00000449854.1",
"transcript_support_level": 3,
"aa_start": 194,
"aa_end": null,
"aa_length": 243,
"cds_start": 581,
"cds_end": null,
"cds_length": 732,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.836G>A",
"hgvs_p": null,
"transcript": "ENST00000546564.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*171G>A",
"hgvs_p": null,
"transcript": "ENST00000547173.5",
"protein_id": "ENSP00000450019.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*171G>A",
"hgvs_p": null,
"transcript": "ENST00000547475.5",
"protein_id": "ENSP00000450222.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*478G>A",
"hgvs_p": null,
"transcript": "ENST00000549098.5",
"protein_id": "ENSP00000448919.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*160G>A",
"hgvs_p": null,
"transcript": "ENST00000551258.5",
"protein_id": "ENSP00000448639.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.2212G>A",
"hgvs_p": null,
"transcript": "ENST00000552461.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*171G>A",
"hgvs_p": null,
"transcript": "ENST00000547173.5",
"protein_id": "ENSP00000450019.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*171G>A",
"hgvs_p": null,
"transcript": "ENST00000547475.5",
"protein_id": "ENSP00000450222.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*478G>A",
"hgvs_p": null,
"transcript": "ENST00000549098.5",
"protein_id": "ENSP00000448919.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*160G>A",
"hgvs_p": null,
"transcript": "ENST00000551258.5",
"protein_id": "ENSP00000448639.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.*140G>A",
"hgvs_p": null,
"transcript": "ENST00000547191.5",
"protein_id": "ENSP00000450121.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*181G>A",
"hgvs_p": null,
"transcript": "ENST00000550296.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.*192G>A",
"hgvs_p": null,
"transcript": "ENST00000552902.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"dbsnp": "rs753374361",
"frequency_reference_population": 0.000017348826,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000150495,
"gnomad_genomes_af": 0.0000394477,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37259188294410706,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.1871,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.942,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001002.4",
"gene_symbol": "RPLP0",
"hgnc_id": 10371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}